IRF2BPL and neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures: Some experiments have proved that part of the full-length IRF2BPL is mislocated on the cytoplasm in astrocytes of NEDAMSS patients, which may play a role in the pathogenesis of the disease.[22] Further functional studies are needed to determine whether the loss of IRF2BPL transcriptional regulatory activity directly leads to differential expression of neurodevelopmental genes.